Canonical Allele Identifier: CA392323357

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415716T>C , CM000677.2:g.48415716T>C	GRCh38
NC_000015.9:g.48707913T>C , CM000677.1:g.48707913T>C	GRCh37
NC_000015.8:g.46495205T>C	NCBI36
NG_008805.2:g.235073A>G , LRG_778:g.235073A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7871A>G MANE Select	NP_000129.3:p.Asn2624Ser
ENST00000316623.10:c.7871A>G MANE Select	ENSP00000325527.5:p.Asn2624Ser
NM_000138.4:c.7871A>G , LRG_778t1:c.7871A>G	NP_000129.3:p.Asn2624Ser
ENST00000316623.9:c.7871A>G	ENSP00000325527.5:p.Asn2624Ser
ENST00000559133.5:c.3240A>G
ENST00000559133.6:c.*679A>G	ENSP00000453958.2:n.*679A>G
ENST00000561429.1:n.126A>G
ENST00000674301.1:c.3037A>G	ENSP00000501333.1:n.3037A>G
ENST00000674301.2:c.*1384A>G	ENSP00000501333.2:n.*1384A>G
ENST00000682158.1:n.1252A>G
ENST00000682170.1:n.2052A>G
ENST00000682767.1:n.1168A>G